Gene Gene information from NCBI Gene database.
Entrez ID 81614
Gene name NIPA magnesium transporter 2
Gene symbol NIPA2
Synonyms (NCBI Gene)
SLC57A2
Chromosome 15
Chromosome location 15q11.2
Summary This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene a
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs371775791 A>G Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
224
miRTarBase ID miRNA Experiments Reference
MIRT040535 hsa-miR-92b-3p CLASH 23622248
MIRT039066 hsa-miR-769-3p CLASH 23622248
MIRT052855 hsa-miR-3615 CLASH 23622248
MIRT440111 hsa-miR-205-5p HITS-CLIP 22473208
MIRT440110 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005768 Component Endosome IEA
GO:0005769 Component Early endosome IEA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane IMP 25347071
GO:0006811 Process Monoatomic ion transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608146 17044 ENSG00000140157
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N8Q9
Protein name Magnesium transporter NIPA2 (Non-imprinted in Prader-Willi/Angelman syndrome region protein 2)
Protein function Acts as a selective Mg(2+) transporter.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05653 Mg_trans_NIPA 8 302 Magnesium transporter NIPA Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:14508708}.
Sequence
Sequence length 360
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Miscellaneous transport and binding events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
15Q11.2 MICRODELETION SYNDROME Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations